Lynch Syndrome (LS) is an autosomal dominant inherited cancer syndrome that predisposes to colorectal, endometrial, gastric, ovarian, upper urinary tract, and other cancers

The presence of mismatch repair (MMR) deficiency helps identify patients at risk for Lynch syndrome (LS); however, it also occurs in ~15% of sporadic colorectal cancers

Differentiating colorectal tumors with MMR deficiency due to a sporadic somatic event from colorectal tumors with MMR deficiency due to a LS germline mutation is important

Universal screening of all colorectal cancer (CRC) specimens (NCCN, 2015; ASCO, 2014) and endometrial cancer specimens (ASCO, 2014; ESMO, 2013;NCCN, 2015) is recommended

Laboratory Testing

For additional information regarding testing strategies, refer to our Laboratory Test Directory

Additional Resources

ARUP’s Gastrointestinal Cancer Experts are nationally and internationally recognized pathologists, subspecialty-qualified clinicians, and board-certified clinical scientists.

ARUP Consult® is a laboratory test selection support tool with more than 2,000 lab tests categorized into disease-related topics and algorithms. ARUP Consult Colorectal Cancer